Tuberous sclerosis: a survey in the canton of Vaud, Switzerland
Olivia Hagon-Nicod, Florence Fellmann, Jan Novy, Sébastien Lebon, Christian Wider, Romain Lazor, Olivier Bonny · 2024
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Description
Olivia Hagon-Nicod and co-authors present a 2024 survey of tuberous sclerosis in the canton of Vaud, Switzerland. The disorder is genetic, strikes many organs, and shows in about one in six to ten thousand births. Gene tests or clinic signs can set the diagnosis, and new drugs can soften some traits.
The team pulled files from the main university hospital and nerve clinics of the region for one year. They found just over fifty patients, fewer than rates would predict for the area. Skin and brain signs were most common, then heart and kidney signs. Most gene positive cases carried a fault in one of two genes. Few patients took the new drugs by mouth at that time. The authors fear mild cases never reach expert care.
Catalog record
| CREATOR | Olivia Hagon-Nicod, Florence Fellmann, Jan Novy, Sébastien Lebon, Christian Wider, Romain Lazor, Olivier Bonny |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 20 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |